rs661
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
A
0.800
CausalMutation
CLINVAR
Analysis of 138 pathogenic mutations in presenilin-1 on the in vitro production of Aβ42 and Aβ40 peptides by γ-secretase.
27930341
2017
rs661
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
A
0.800
CausalMutation
CLINVAR
Loss of Aβ43 Production Caused by Presenilin-1 Mutations in the Knockin Mouse Brain.
27100200
2016
rs661
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
A
0.800
CausalMutation
CLINVAR
Familial Alzheimer's Disease Mutations in Presenilin Generate Amyloidogenic Aβ Peptide Seeds.
27100199
2016
rs661
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
A
0.800
CausalMutation
CLINVAR
Presenilin-1 knockin mice reveal loss-of-function mechanism for familial Alzheimer's disease.
25741723
2015
rs661
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
A
0.800
CausalMutation
CLINVAR
Familial Alzheimer's disease coding mutations reduce Presenilin-1 expression in a novel genomic locus reporter model.
24011544
2014
rs661
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
A
0.800
CausalMutation
CLINVAR
Exome sequencing identifies 2 novel presenilin 1 mutations (p.L166V and p.S230R) in British early-onset Alzheimer's disease.
24880964
2014
rs661
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
A
0.800
CausalMutation
CLINVAR
Trans-dominant negative effects of pathogenic PSEN1 mutations on γ-secretase activity and Aβ production.
23843529
2013
rs661
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
A
0.800
CausalMutation
CLINVAR
MOCA is an integrator of the neuronal death signals that are activated by familial Alzheimer's disease-related mutants of amyloid β precursor protein and presenilins.
22115042
2012
rs661
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
A
0.800
CausalMutation
CLINVAR
Presenilin/γ-secretase regulates neurexin processing at synapses.
21559374
2011
rs661
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
A
0.800
CausalMutation
CLINVAR
Presenilin 1 mutants impair the self-renewal and differentiation of adult murine subventricular zone-neuronal progenitors via cell-autonomous mechanisms involving notch signaling.
20484632
2010
rs661
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
A
0.800
CausalMutation
CLINVAR
Dual roles of the transmembrane protein p23/TMP21 in the modulation of amyloid precursor protein metabolism.
17288597
2007
rs661
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
A
0.800
CausalMutation
CLINVAR
Amyloid deposition begins in the striatum of presenilin-1 mutation carriers from two unrelated pedigrees.
17553989
2007
rs661
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
A
0.800
CausalMutation
CLINVAR
Presenilin-1 C410Y Alzheimer disease plaques contain synaptic proteins.
17545141
2007
rs661
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
A
0.800
CausalMutation
CLINVAR
Human presenilin-1, but not familial Alzheimer's disease (FAD) mutants, facilitate Caenorhabditis elegans Notch signalling independently of proteolytic processing.
9680315
1997
rs661
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
A
0.800
CausalMutation
CLINVAR
Alzheimer's disease-associated presenilins 1 and 2: accelerated amyloid fibril formation of mutant 410 Cys-->Tyr and 141 Asn-->Ile peptides.
9196071
1997
rs661
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
A
0.800
CausalMutation
CLINVAR
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease.
7596406
1995
rs661
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
A
0.800
CausalMutation
CLINVAR
Mutations of the presenilin I gene in families with early-onset Alzheimer's disease.
8634712
1995
rs661
×
Entrez Id:
5663
Gene Symbol:
PSEN1
PSEN1
Alzheimer disease, familial, type 3
0.800
GeneticVariation
UNIPROT